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  2. Ciliary Dyskinesia
  3. TTC12
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Ciliary Dyskinesia

Gene: TTC12

Green List (high evidence)
TTC12 (tetratricopeptide repeat domain 12)
EnsemblGeneIds (GRCh38): ENSG00000149292
EnsemblGeneIds (GRCh37): ENSG00000149292
OMIM: 610732, Gene2Phenotype
TTC12 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four unrelated families with LoF variants reported with a respiratory phenotype.
Sources: Literature
Created: 26 Jan 2020, 10:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia

Publications

Created: 26 Jan 2020, 10:41 a.m.

Panel version: 0.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ciliary dyskinesia
OMIM
610732
Clinvar variants
Variants in TTC12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ttc12 has been classified as Green List (High Evidence).

26 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ttc12 has been classified as Green List (High Evidence).

26 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ttc12 has been classified as Green List (High Evidence).

26 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TTC12 was added gene: TTC12 was added to Ciliary Dyskinesia. Sources: Literature Mode of inheritance for gene: TTC12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC12 were set to 31978331 Phenotypes for gene: TTC12 were set to Ciliary dyskinesia Review for gene: TTC12 was set to GREEN